KCNE1

The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophysiologic and pharmacologic properties. This gene encodes a transmembrane protein known to associate with the product of the KVLQT1 gene to form the delayed rectifier potassium channel. Mutation in this gene are associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

Full Name

Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1

Function

Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 (PubMed:19219384).
Assembled with KCNQ1/KVLQT1 is proposed to form the slowly activating delayed rectifier cardiac potassium (IKs) channel. The outward current reaches its steady state only after 50 seconds. Assembled with KCNH2/HERG may modulate the rapidly activating component of the delayed rectifying potassium current in heart (IKr).

Biological Process

Cardiac muscle cell action potential involved in contractionManual Assertion Based On ExperimentIMP:BHF-UCL
Cellular response to cAMPManual Assertion Based On ExperimentIDA:BHF-UCL
Membrane repolarizationManual Assertion Based On ExperimentIDA:BHF-UCL
Membrane repolarization during action potentialManual Assertion Based On ExperimentIDA:BHF-UCL
Membrane repolarization during cardiac muscle cell action potentialManual Assertion Based On ExperimentIDA:BHF-UCL
Membrane repolarization during ventricular cardiac muscle cell action potentialManual Assertion Based On ExperimentIMP:BHF-UCL
Negative regulation of delayed rectifier potassium channel activityManual Assertion Based On ExperimentIDA:UniProtKB
Negative regulation of protein targeting to membraneISS:BHF-UCL
Positive regulation of potassium ion transmembrane transportManual Assertion Based On ExperimentIDA:BHF-UCL
Potassium ion export across plasma membraneManual Assertion Based On ExperimentIDA:BHF-UCL
Potassium ion transmembrane transportManual Assertion Based On ExperimentIDA:BHF-UCL
Regulation of delayed rectifier potassium channel activityManual Assertion Based On ExperimentIDA:BHF-UCL
Regulation of heart rate by cardiac conductionManual Assertion Based On ExperimentIMP:BHF-UCL
Regulation of potassium ion transmembrane transportManual Assertion Based On ExperimentIDA:BHF-UCL
Regulation of ventricular cardiac muscle cell membrane repolarizationManual Assertion Based On ExperimentIMP:BHF-UCL
Sensory perception of soundManual Assertion Based On ExperimentTAS:ProtInc
Ventricular cardiac muscle cell action potentialManual Assertion Based On ExperimentIMP:BHF-UCL

Cellular Location

Cell membrane; Apical cell membrane; Membrane raft. Colocalizes with KCNB1 at the plasma membrane (By similarity).
Targets to the membrane raft when associated with KCNQ1 (PubMed:20533308).

Involvement in disease

Jervell and Lange-Nielsen syndrome 2 (JLNS2):
An autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death.
Long QT syndrome 5 (LQT5):
A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.

Topology

Helical: 44-66
Cytoplasmic: 67-129

PTM

Phosphorylation inhibits the potassium current.
N-glycosylation at Asn-26 occurs post-translationally, and requires prior cotranslational glycosylation at Asn-5.